01p132

1p13.2

Publication Details

  • Barnicoat A J, Docherty Z, Bobrow M: Where have all the fragile X boys gone? Develop. Med. Child Neurol. 35:532-539, 1993. [PubMed: 7684989]
    46,XY,t(1;2)(p13.2;p11.2)mat.
    Aberration: Simple translocation
    Positive band

  • Dockery H, Van der Westhuyzen J: Monosomy of 1p13.3-22.3 in twins. Clin. Genet. 39:223-227, 1991. [PubMed: 2036744]
    Monozygotic twins JAB and JIB.
    46,XX,-1,-4,-9,-18,+der(1)t(1;9)(p22.3;q13)inv(1)(p13.2q25)del(1)(p13.3 -> p22.3)t(4;18)(4qter -> 4q32::18q22 -> 18qter; 18pter -> 18q22::4q32 -> 4pter).
    The twins are now 30 years old.
    Parents and sibs had normal karyotypes.
    Aberration: ST,PI,ID,RT
    Chromosomal Aneuploidy: 1p-
    Positive band

  • Patil S R, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]
    Observation No. 124.
    46,XX,t(1;16)(p132;p11)pat.
    Aberration: Reciprocal translocation
    Positive band